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Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations.

作者信息

Hernández Alba M, Villamar Manuela, Roselló Lidia, Moreno-Pelayo Miguel A, Moreno Felipe, Del Castillo Ignacio

机构信息

Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, Spain.

出版信息

Am J Med Genet A. 2007 Apr 1;143A(7):757-62. doi: 10.1002/ajmg.a.31617.

DOI:10.1002/ajmg.a.31617
PMID:17309062
Abstract
摘要

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